Varaico: Literature-Extracted Genetic Variants

CELF2

72 papers

RefSeq Summary

Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM ...

Pfam Domains

RRM_1aa 42–113UCSCRNA recognition motif

RRM_1aa 134–202UCSCRNA recognition motif

RRM_1aa 438–508UCSCRNA recognition motif

Gene Aliases

HGNC Name

CUGBP Elav-like family member 2

HGNC Previous Symbol

CUGBP2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001326342.2

p.R506C

c.1516C>T

NM_001025077.3

p.R493C

c.1477C>T

Surrounding Variants

2 papers

NM_001326342.2

p.R506G

c.1516C>G

3 papers

NM_001025077.3

p.R493H

c.1478G>A

NM_001326342.2

p.R506H

c.1517G>A

1 paper

NM_001025077.3

p.R500H

c.1499G>A

1 paper

NM_001025077.3

p.M484R

c.1451T>G

1 paper

NM_001326342.2

p.K519R

c.1556A>G

1 paper

NM_001025077.3

p.P507T

c.1519C>A

3 papers

NM_001326342.2

p.P520S

c.1558C>T

NM_001025077.3

p.P507S

c.1519C>T

1 paper

NM_001326342.2

p.P520R

c.1559C>G

2 papers

NM_001083591.1

p.P487L

c.1460C>T

NM_001025077.3

p.P507L

c.1520C>T

1 paper

NM_001326342.2

p.Y521insFs

c.1562dupA

1 paper

NM_001326342.2

p.Y521*

c.1563C>A

1 paper

NM_001326342.2

p.Y521*

c.1563C>G